Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
CLINVAR |
D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia.
|
25882080 |
2015 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
UNIPROT |
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.
|
9482850 |
1998 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
CLINVAR |
Molecular changes in the D-bifunctional protein cDNA sequence in Australasian patients belonging to the bifunctional protein complementation group.
|
11330053 |
2000 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
CLINVAR |
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
|
23181892 |
2012 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
CLINVAR |
Yeast peroxisomal multifunctional enzyme: (3R)-hydroxyacyl-CoA dehydrogenase domains A and B are required for optimal growth on oleic acid.
|
10497229 |
1999 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
CLINVAR |
Inactivation of the peroxisomal multifunctional protein-2 in mice impedes the degradation of not only 2-methyl-branched fatty acids and bile acid intermediates but also of very long chain fatty acids.
|
10748062 |
2000 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
CLINVAR |
Peroxisomal D-bifunctional protein deficiency: First case reports from Slovakia.
|
25967389 |
2015 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
CLINVAR |
Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.
|
9482850 |
1998 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
CLINVAR |
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
|
27243974 |
2016 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
UNIPROT |
D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes.
|
11743515 |
2001 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
CLINVAR |
A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.
|
23100014 |
2013 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
CLINVAR |
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.
|
16385454 |
2006 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
CLINVAR |
Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing.
|
28017249 |
2017 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
UNIPROT |
Human peroxisomal multifunctional enzyme type 2. Site-directed mutagenesis studies show the importance of two protic residues for 2-enoyl-CoA hydratase 2 activity.
|
10671535 |
2000 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
CLINVAR |
Hydratase activities of green fluorescent protein tagged human multifunctional enzyme type 2 hydratase domain and its variants.
|
22864515 |
2012 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
CLINVAR |
On the molecular basis of D-bifunctional protein deficiency type III.
|
23308274 |
2013 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
CLINVAR |
Characterization of the HSD17B4 gene: D-specific multifunctional protein 2/17beta-hydroxysteroid dehydrogenase IV.
|
10419023 |
1999 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
CLINVAR |
Crystal structure of 2-enoyl-CoA hydratase 2 from human peroxisomal multifunctional enzyme type 2.
|
15644212 |
2005 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
UNIPROT |
In line with the central role of D-bifunctional protein in the beta-oxidation of these three types of fatty acids, all patients with D-bifunctional protein deficiency so far reported in the literature show elevated levels of very long chain fatty acids, branched chain fatty acids and bile acid inter-mediates.
|
10400999 |
1999 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
CLINVAR |
In line with the central role of D-bifunctional protein in the beta-oxidation of these three types of fatty acids, all patients with D-bifunctional protein deficiency so far reported in the literature show elevated levels of very long chain fatty acids, branched chain fatty acids and bile acid inter-mediates.
|
10400999 |
1999 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
CLINVAR |
Expanding the genotypic spectrum of Perrault syndrome.
|
26970254 |
2017 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
CLINVAR |
A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency.
|
12562856 |
2003 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
CLINVAR |
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
|
27290639 |
2016 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
CLINVAR |
Binary structure of the two-domain (3R)-hydroxyacyl-CoA dehydrogenase from rat peroxisomal multifunctional enzyme type 2 at 2.38 A resolution.
|
12517343 |
2003 |
Bifunctional peroxisomal enzyme deficiency
|
0.900 |
GeneticVariation
|
phenotype |
CLINVAR |
Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
|
24108619 |
2014 |